| | LOC129996876, LOC129996877 +1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex 1 deficiency, nuclear type 15 +2 more | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | Mitochondrial complex 1 deficiency, nuclear type 15 +2 more | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | LOC129996857, NDUFAF4 (A30S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996857, NDUFAF4 (S28C) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 15 | |
| | LOC129996857, NDUFAF4 (M25T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NDUFAF4, LOC129996857 (K24E) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996857, NDUFAF4 (I22V) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996857, NDUFAF4 (E21V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | LOC129996857, NDUFAF4 (R20Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996857, NDUFAF4 (L14I) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 15 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | NDUFAF4, LOC129996857 (R7L) | Indel (missense variant) | not specified | |